The story, reporting a first-of-its-kind-in-UK procedure, is of a nine-year old girl with congenital Fanconi’s anemia, an autosomal recessive (or X-linked recessive in ~2% cases) disorder that can result in bone marrow failure; younger patients eventually develop acute myelogenous leukemia (AML), various other hematological abnormalities, kidney problems, and developmental issues, while older patients often develop carcinoma of head and neck, GI, or genito-urinary tract.

The 13 genes involved in Fanconi’s anemia (including 1 that is identical to the well-known breast-cancer-susceptibility gene, BRCA2) encode proteins that assist the recognition and repair of damaged DNA; one or more of these genes are inactivated in Fanconi’s anemia, a relatively rare disease, with a prevalence of 1-5 cases per 1 million persons (N Engl J Med 2010; 362:1909-1919). In this girl’s case, the poor parents were possibly unwitting hapless carriers (a copy each) of the inactivated gene(s), so that the girl received no active copy at all.

Therapy with androgens and hematopoietic growth factors may be effective for treating bone marrow failure in Fanconi’s anemia; however, the disease often becomes refractory to these treatments. For such patients, hematopoietic stem-cell (bone-marrow) transplantation is the only viable option, if a matched donor is available. Preimplantation genetic diagnosis is a new approach for identifying potential sibling donors for patients with Fanconi’s anemia (See the NEJM Paper above). However, the older brother of this girl was found to be an unsuitable donor, and a worldwide search also failed to find a suitable tissue donor match.

The young parents, in their 30s, chose to have an baby by in vitro fertilization (IVF), in which doctors implanted two out of 6 embryos created by IVF. Several tests showed that the implanted embryo was free of the genetic defect. One year after the boy was born and found to be a good tissue match for this sister, the doctors at the Bristol Royal Hospital treated the girl by transfusing healthy bone marrow from him. She has been monitored carefully for six-months, and is now well enough to consider returning to school.

This is a life-affirming story, as well as one of the wonders of modern medicine and applied biology. I am genuinely happy for the little girl, who got better, as well as a baby brother as a bonus out of it.

Yet, I am ashamed to admit, I cannot shake off a nagging feeling.

I have grown up on a staple of Bollywood (Hindi) movies, where sisters, brothers, parents, children were all ready to sacrifice themselves for the good of their [insert appropriate] family members. ‘Self-abnegation’ and ‘renunciation for the good of humanity’ and so forth are concepts that my parents, followers of Hindu philosophy and spiritual beliefs, drilled into me through endless mythological stories and parables and fables. So I should be comfortable with this situation where the younger brother saves the elder sister’s life, right?

And yet, I can come to no easy terms with the ideas that:

This child, the youngest son, was not borne out of love, but merely as a tool to be utilized, even if the cause was noble.

The bone-marrow was drawn from the child (a painful procedure per se) when he was just one-year old, much below an age where he was capable of giving consent. The boy was simply not in a position to agree or disagree to the procedure, a fact that is unaltered by the parents being empowered by law to provide proxy consent on his behalf. So, even though the son may have happily donated all his organs or even his life for his sister (à la my Hindi films), what if he refused, what if he could refuse? We will never know, will we?

Those who know me well know that I am not, I repeat, not, anti-abortion (those of you who are aware of the US scenario will appreciate the full force of that statement). I don’t consider a ball of cells (morula, gastrula, blastula) to be a living individual. I do draw a line at the fully-formed fetus, with neurological and cardiac activity, but to me, pre-partum, the mother’s health, well-being and wishes are paramount. But this is not one of those situations.

Here is a child who was created with the specific purpose of saving his sister’s life (hence the somewhat awful news-media moniker, ‘saviour sibling’). The fact that he had no say in being used thusly gives me a pause. How ethical was it to do that? Does the successful end (remission of his sister’s disease) justify the means? Will his life be just like anyone else’s? Will his parents love and cherish him like his elder siblings? Will his parents and sister be eternally grateful to him, thereby spoiling him silly and making a brat out of him? I don’t have any answer to these questions. Perhaps only time can tell.

How did you react to this news? Did any of you face the same ethical dilemma as I did? Or, am I just over-reacting or confused? Please let me know in the comments.

8 Comments

1. The parents knew that it was possible to save their daughter if she had a sibling who was a donor match. If they had decided not to get another baby, would they have consciously obstructed their daughter’s treatment?

2. The younger sibling will find out later that he was created to save his sister, and that will probably make him uncomfortable. But people concieve/get/keep children for all kinds of reasons: to save a marriage, because they were drunk, religious reasons, etc. Will this boy grow up feeling better or worse than those other kids?

3. Would it have been better if he was conceived naturally rather than through IVF? IVF allowed the parents to choose a pre-implantation embryo with the right characteristics ("designer baby") but if they had gone the natural way, they might have had another three or four kids until they got one baby who could be a donor. I would argue that in this sitiuation the "designer baby" was actually more ethical than going about it in a trial-and-error way and ending up with multiple unwanted children until they got "the right one". (But I am already in principle not opposed to IVF, and I realize this argument may not hold for people who are more comfortable with raising unwanted kids than with the generation of excess embryos that is part of IVF.)

So it’s not just the "saviour sibling" dilemma, but also the ethical aspects of IVF to weigh here.

If this was in the UK and done on the NHS there will have been a long assessment process, including the psychiatrists and the ethicists. If there was any question in their minds that the parents ONLY wanted the child as a "saviour sibling" then they would not have got approval. Full stop.

The procedure would only go ahead if the combined team (probably up to a full hospital Ethics Board, or even beyond) had concluded that the parents genuinely wanted another child, and that the saviour sib aspect (and hence the IVF) was essentially a "side benefit".

As to the bone marrow draw when the child is below the age of consent, I guess they are likely viewing this as a trade against "he will later know that he was part of saving his elder sister’s life"

The reason for not doing it by natural conception is that then you do not get the ability to pick an embryo (i) with the correct "saviour" gene combo; and (ii) without the disease. If the parents are carriers of a recessive mutation they always have a 1 in 4 chance of a child with the disease. This is avoided with IVF, and would be a reason for such a couple to be offered IVF for pregnancies subsequent to the one that produced the child with the genetic problem.

Anyway, the ethical approval process will have been mostly centred around the "Will the new child be wanted and loved for itself" issue. After that is decided, there is no reason NOT to go the IVF / pre-implantation screening route, if you discount the religious objections; the technical process is pretty standard these days.

Of course, not all jurisdictions and clinics would apply this kind of ethics process. In some places it may be less about the ethics, and rather more about the money.

For the sake of discussion: let me copy and paste what Prof. Curry (yes, our Stephen Curry) wrote in my other blog.

If it was my child who was sick, I don’t think I would hesitate to follow this route. Just as I wouldn’t hesitate to be a tissue donor if I was an acceptable match.

My guiding thoughts would be:

Parents who loved their ill child enough to put themselves and another child through this would certainly have a great love for the ‘rescuer’ child born by IVF.

Is this utilitarian approach to child-birth so different from what happens in countries where children are sometimes produced to help with family economics (work on the farm, take care of parents in old age)?

Would not the IVF child be glad of the chance of life afforded by these unusual circumstances? We are all the result of long series happy accidents, chance encounters etc. This is just a variation on a long-standing theme.

Would there not be a great sense of worth for the IVF child, knowing that just by being born they had saved another. That is a value and meaning that no-one else has.

If you search PubMed with "saviour sibling" you will find there is a fair amount of discussion of this question in the medical and specifically medical ethics literature. One older example, which tackles several of the main "anti" arguments, is here.

The first such case internationally was in 2003, I think, and the Law Lords gave the legal go-ahead in the UK as long ago as 2005 – so in a way it’s "old news" in a medical ethics sense. I’m actually surprised if it really is the first case in the UK.

The BBC Radio 4 show Inside The Ethics Committee has also done a programme on almost exactly this question, which you can find here.

Thank you all for commenting. Eva, I agree with you on points 1 & 2, and I think I understand the nuance of your point 3. I have no problem with IVF either, and designed like a scientific experiment, IVF in this case is the most obvious choice for the reasons of parsimony, targeted action, specific results and so forth, as Austin also pointed out. But I questioned not the process, but the ethicality of the motivation behind it.

Austin, this was done in the UK, as mentioned in the original article – Bristol Royal Infirmary, and the monitoring at Aberdeen, IIRC. I don’t know if it was through NHS, though. The overall cost, 10K pound sterling, seems absurdly low.

Therefore, I don’t honestly know about the money angle. The news report, of course, didn’t mention whether the doctors pushed the savior sib angle as the fringe benefit or the main cause. But had there been an ethical committee discussion, surely they couldn’t have missed the convenience of the couple wanting another child right at this juncture?

Prof. Curry, same as you, I wouldn’t hesitate to be a tissue donor if I were found a match for a loved one under similar circumstances. But I must make an important distinction here (which also answers a similar question of some of my Twitter friends).

I, as an adult with full control of my mental faculties, am empowered to offer my tissue/organ to whatever cause I deem important, as are you all. However, an infant of one year is not.

The situation, for me, becomes even murkier when I find that the baby was created (no matter by what means) especially to serve as a tissue donor. His birth was not incidental, but rather central to the process of the treatment of the older sib. This (what you eloquently term as ‘utlilitarian approach’ and provide valid examples for) is what has made me uncomfortable.

One of my Twitter friends likened my discomfort to the ignorant (and oddly, fashionable) opposition of the religious right to using human embryonic stem cells. I most emphatically disagree. As I mentioned in my post, the blastocyst is not a living being, and I have no beef with collecting cells from it for the purpose of research and treatment. I am talking about a fully formed, born human being, with certain inalienable rights, especially one who’s unable to provide consent.

Prof. Curry, about the sense of worth for the child, who’d come to know that he saved another’s life… I’d tend to agree BUT – the child didn’t know it at that time, and couldn’t have consented to be this savior. Doesn’t that go against the ethics of informed consent that we duly impose on situations involving adults? Allow me to propose this hypothetical: would it be acceptable to, say, having identified a tissue match in an unconscious or comatose adult, simply use his/her bone marrow to save someone else’s life – implicitly assuming that the said adult would later bask in the glory of saving a life?

Just to emphasize the importance of it, Austin Elliot has pointed to an important article in the Journal of Medical Ethics, by Sheldon and Wilkinson of the Centre for Professional Ethics, Keele University, UK. It’s in PubMed Central, so the PDF is freely accessible. It deals with the exact same question. I am running away to read it.

Interesting discussion, folks. Kausik, the problem with trying to come up with analogies is that (1) an analogy differs somehow from the original issue (it is not the same thing) (2) this in turn means it’s generally easy to come up an analogy to support or refute your original issue.

For example, IIRC, for a comatose patient to act as a donor, they would have to have given their own prior consent (say, with a donor card), or someoneelse has to give consent, I suspect it would be the next of kin, or person who holds power of attorny for the comatose patient. Making this clear actually brings your analogy closer to the above saviour case, but still doesn’t make it the same.

Personally, I’m in favour of the parents deciding in this case, assuming it does no lasting harm to the child (which is a big assumption).